[DiGeorge syndrome, a review of 52 patients]. / Syndrome de Di George, étude rétrospective de 52 cas.

UNLABELLED: The deletion of chromosome 22q11.2 is involved in the majority of DiGeorge or velo-cardiofacial syndrome. The phenotypic variability was noted in the "CATCH 22" acronym. This acronym doesn't recapitulate the full spectrum of the symptoms. The diagnosis of this syndrome can be done with the prenatal diagnosis, with fetal pathology or with a child alive. METHODS: Review of 52 cases with the microdeletion 22q11. Six cases were diagnosed during the prenatal period, 12 cases at fetal pathology examination, and 34 cases during infancy. RESULTS: Cardiac malformations were the major indications (75%) to search for the microdeletion. The facial dysmorphy was difficult to diagnose during the antenatal period or in dead foetus, thereby it was not often recognized. The renal anomalies usually present in 35% of cases, were diagnosed in only 6 to 16% of the cases in our study. CONCLUSION: Phenotypic diversity of the DiGeorge syndrome is important. Its knowledge allows to better determine the indications of the research of the microdeletion. 22q11.2.

Trisomy 22 with thyroid isthmus agenesis and absent gall bladder.

This manuscript reports a fetus of 24 weeks gestation, detected on echography to have congenital anomalies: intra-uterine growth retardation, facial dysmorphism, ventricular septal defect with aortic displacement and 8-mm nuchal skinfold thickness. Karyotype was performed. Post termination of pregnancy autopsy showed additionnal internal organ anomalies included: absent gall bladder and thyroid isthmus agenesis. To our knowledge, these anomalies have never been described in trisomic 22 fetuses. This case suggests that chromosome 22 could play a role in thyroid development.

[Iniencephaly: four cases and a review of the literature]. / Iniencéphalie: à propos de 4 nouvelles observations et revue de la littérature.

Iniencephaly is a rare malformation of the base of the skull. The brain is involved and prognosis is almost invariably lethal. We identified 202 reports in the literature up through 2000. Ultrasound morphology explorations now provide the diagnosis making it possible to propose pregnancy termination. We report four cases of iniencephaly diagnosed between 1992 and 1999.

Early prenatal diagnosis of ventricular diverticulum complicated by serous pericardial effusion.

An unusual case of apical diverticulum complicated by serous pericardial effusion and diagnosed ultrasonographically at 13 weeks of gestation is described. A therapeutic abortion was induced at 14 weeks and the complete post-mortem examination did not show additional malformation. Cardiac diverticulum is a rare malformation that occurs as an isolated defect or as part of a complex midline thoraco-abdominal defect. Only two prenatally diagnosed cases have been previously reported in the literature and none with associated hydropericardium.

Diprosopia revisited in light of the recognized role of neural crest cells in facial development.

OBJECTIVE: The aim of this study is to compare the theory of embryogenesis of the face with human diprosopia. This peculiar form of conjoined twinning is of great interest because 1) only the facial structures are duplicated and 2) almost all cases have a rather monomorphic pattern. The hypothesis is that an initial duplication of the notochord leads to two neural plates and subsequently duplicated neural crests. In those conditions, derivatives of the neural crests will be partially or totally duplicated; therefore, in diprosopia, the duplicated facial structures would be considered to be neural crest derivatives. If these structures are identical to those that are experimentally demonstrated to be neural crest derivatives in animals, these findings are an argument to apply this theory of facial embryogenesis in man. METHODS: Serial horizontal sections of the face of two diprosopic fetuses (11 and 21 weeks gestation) were studied macro- and microscopically to determine the external and internal structures that are duplicated. Complete postmortem examination was performed in search for additional malformations. RESULTS: The face of both fetuses showed a very similar morphologic pattern with duplication of ocular, nasal, and buccal structures. The nasal fossae and the anterior part of the tongue were also duplicated, albeit the posterior part and the pharyngolaryngeal structures were unique. Additional facial clefts were present in both fetuses. Extrafacial anomalies were represented by a craniorachischisis, two fused vertebral columns and, in the older fetus, by a complex cardiac malformation morphologically identical to malformations induced by removal or grafting of additional cardiac neural crest cells in animals. CONCLUSION: These pathological findings could identify the facial structures that are neural crest derivatives in man. They are similar to those experimentally demonstrated to be neural crest derivatives in animals. In this respect, diprosopia could be considered as the end of a spectrum, whereas the other end is agnathia-holoprosencephaly complex. This assumption has to be discussed, but we want to draw attention to the fact that diprosopia must not be considered as a curious form of conjoined twinning, but as a major means of bringing us a better knowledge of the facial embryogenesis in man.

[Lethal hydrops fetalis secondary to an umbilical cord hemangioma]. / Anasarque foeto-placentaire létale secondaire à un hémangiome du cordon ombilical.

We report an umbilical cord hemangioma associated with an hydrops fetalis and detected by ultrasonography at 21 week's gestation. Because of the fetal distress, a caesarean section was performed at 28 weeks'. The infant died soon after birth despite resuscitation. The post-mortem examination showed an extensive accumulation of serous fluid in the fetal tissues and the body cavities, and major pulmonary hypoplasia. The umbilical cord contained a grossly fusiform tumor which fulfilled the pathological criteria of an umbilical cord hemangioma. Umbilical cord hemangiomas are very unusual tumors and are rarely associated with a fetal hydrops. This tumor is a cause of increased maternal serum and amniotic fluid alpha-foetoprotein levels. Although it is usually isolated, it is imperative to search for associated malformations or angiomas that may clinically manifest later.

Idiopathic arterial calcification in a stillborn complicated by pleural hemorrhage and hydrops fetalis.

We report a case of idiopathic arterial calcification in a stillborn. As usually noted in this rare entity, the pregnancy was complicated by a polyhydramnios. The postmortem examination showed generalized arterial calcification, periarticular calcific deposits, and a large pleural hemorrhage. The causes of fetal hydrops in idiopathic infantile calcification are discussed, and, in the present case, the absence of myocardial ischemic lesion suggests that the fetal hydrops and the fetal death could have been caused by the bulky blood clot that was present in the right pleural cavity. The pathogenesis remains undetermined, but a primitive inherent defect of the elastic elements seems to initiate this disorder.

[Cystic adenomatoid malformation of the lung, bilateral renal agenesis and left heart hypoplasia. An unusual association in Potter's syndrome]. / Malformation adénomatoïde kystique du poumon, agénésie rénale bilatérale et hypoplasie du coeur gauche. Une association inhabituelle dans un syndrome de Potter.

We describe an autopsy case of congenital cystic adenomatoid malformation of the lung (CCAM) associated with bilateral renal agenesis. Prenatal ultrasound examination showed additional left heart hypoplastic syndrome. A therapeutic abortion was induced at 23 weeks of gestation. The association CCAM-bilateral renal agenesis is a rare condition (5 cases previously described) which has to be known because of the mitigation effect of the CCAM on the oligohydramnios determined by bilateral renal agenesis. However, this instance is usually associated with oligohydramnios. The pathogenesis of polyhydramnios in isolated CCAM is discussed in regard with these data.

[Fetus in fetu and acardiac monster: can the similar patterns of these 2 malformations be explained by a common morphogenic mechanism?]. / Foetus in fetu et monstre acardiaque: un mécanisme morphogénique commun explique-t-il les similitudes de ces deux malformations?

Fetus in fetu and acardiac monster are two unusual malformations (estimated incidences: 1 in 500,000 and 1 in 34,600 deliveries respectively) which present very similar morphological patterns. The authors report two cases of acardiac monster and a case of fetus in fetu which emphasize this fact. These findings suggest that a single morphogenic mechanism leads to the defects observed in these two groups of malformations.

[Analysis of 1410 examinations of fetal pathology at the University Hospitals of Bordeaux]. / Analyse de 1,410 examens foetopathologiques pratiqués au CHU de Bordeaux.

We present a retrospective study of 1,410 fetal pathological examinations performed in the department of pathology of the CHU de Bordeaux. Initially, the recruitment of the cases was limited to the three maternity units of the CHU. Public and private maternities and departments of pediatrics from the whole of Aquitaine (S.W. province) as well as a certain number of neighbouring provinces now send us their material for analysis. Fetal pathological examination is systematically indicated in cases concerning spontaneous abortion, pregnancies terminated after prenatal diagnosis and stillbirths. Autopsies performed on children aged from 0 to 1 year have been included. The same technique has been used for all examinations and the data have been recorded on a computerized system (Centre Régional d'Informatique Hospitalière). Current data analysis for age at death, sex-ratio, maternal age, mode of abortion and pathological conditions are given. We found at least one pathological anomaly in 43.2% of the spontaneously aborted fetuses and stillbirths. Nevertheless, our aim is to demonstrate that foetopathology units can play a role not only for diagnoses having a significant impact on genetic counseling, but also as a database for epidemiological studies.

[Arterial opacification in the anatomo-pathologic test of the fetus]. / Apport de l'opacification artérielle dans l'examen anatomo-pathologique du foetus.

Arteriography provides information that is very useful for planning postmortem examinations of fetuses and stillborn neonates. This was demonstrated in a series of 25 fetal arteriographies performed by catheterization of the umbilical artery. A detailed analysis of systemic and pulmonary arteries was possible. The data thus collected was used to plan the postmortem examination. Furthermore, arteriography provided data on organs damaged by maceration and small caliber vessels that could not be readily submitted to pathologic studies. Arteriography of fetuses or stillborn infants is irreplaceable when permission to perform an autopsy is refused by the parents.